P3H1 Chromosome 1

Prolyl 3-hydroxylase 1
159 variants 159 Health Risk

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What This Gene Does
This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
Prolyl 3-hydroxylase family
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000117385
Associated Conditions (21)
Osteogenesis imperfecta type 8
Osteogenesis imperfecta
P3H1-related disorder
Clear cell carcinoma of kidney
Colorectal cancer
Hepatocellular carcinoma
Lung cancer
Colon adenocarcinoma
Sarcoma
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Cervical cancer
Familial cancer of breast
Gastric cancer
Ovarian serous cystadenocarcinoma
Melanoma
Acute myeloid leukemia
Osteogenesis Imperfecta
Recessive
Inborn genetic diseases
+1 more conditions
Key Variants
RS113593896
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis imperfecta, P3H1-related disorder
Health Risk
RS114044880
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS115108794
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS11581921
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS1237398609
Conflicting classifications of pathogenicity
Osteogenesis Imperfecta, Recessive, Osteogenesis imperfecta type 8
Health Risk
RS13871
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS139259804
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS140254470
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Inborn genetic diseases, P3H1-related disorder
Health Risk
RS140334418
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS141786883
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS149113630
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, Osteogenesis Imperfecta, Recessive
Health Risk
RS149894086
Conflicting classifications of pathogenicity
Osteogenesis imperfecta type 8, P3H1-related disorder, Inborn genetic diseases
Health Risk
All Variants (159)
RSID Category Clinical Significance Conditions
RS1306034404 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1570452214 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1652152909 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1652352034 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124071974 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124076966 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124093521 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type 8, Osteogenesis imperfecta
RS2124177151 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524398325 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524418358 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524450482 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524450808 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524451273 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524465398 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS72659352 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS758415465 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS761033636 Health Risk Likely pathogenic —
RS762525651 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS778209371 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS786205443 Health Risk Likely pathogenic —
RS118203996 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1214987088 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1226013247 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1229143002 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1326693946 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1330779100 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta, Osteogenesis imperfecta type 8
RS137853948 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS137853950 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS137853952 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1383503951 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1413085360 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1481553944 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1553143142 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1553143741 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1557562343 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1557569037 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1570472113 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1570479611 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1652311421 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1652551021 Health Risk Pathogenic Osteogenesis imperfecta type 8, P3H1-related disorder, Osteogenesis imperfecta type 8
RS1653010161 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS200899260 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124072579 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124076040 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124076122 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124079876 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124122351 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124142972 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2124174456 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS2524395082 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
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